"Martin Pollak Laboratory, Beth Israel Deaconess Medical Center"[submi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64477	NM_001098.3(ACO2):c.250C>T (p.Arg84Ter)	ACO2 (R84*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 64475	NM_001098.3(ACO2):c.1776T>C (p.Cys592=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 64476	NM_001098.3(ACO2):c.1927G>A (p.Val643Ile)	ACO2, POLR3H (V643I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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